Research Topics
Genomes and Genes
| Kazuo UmetsuSummaryAffiliation: Yamagata University Country: Japan Publications
| Collaborators
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Detail Information
Publications
Recent progress in mitochondrial DNA analysisKazuo Umetsu
Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata 990 9585, Japan
Leg Med (Tokyo) 7:259-62. 2005..Haplogroups are fairly continent- and/or region-specific; therefore, we can infer the ethnic background of that mtDNA. In addition, errors in hypervariable region sequences can be detected by means of haplogroup motif analysis...- Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variationsK Umetsu
Department of Forensic Medicine, Yamagata University School of Medicine, Japan
Electrophoresis 22:3533-8. 2001..The multiplex APLP method is suitable for large-scale screening studies of mtDNA variability because it is both rapid and economical... - Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populationsKazuo Umetsu
Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan
Electrophoresis 26:91-8. 2005..This is the first panel of mtSNPs in the coding region to be used for haplogrouping of East Asian populations... - Complete mitochondrial DNA sequence of a tadpole shrimp (Triops cancriformis) and analysis of museum samplesKazuo Umetsu
Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
Electrophoresis 23:4080-4. 2002..The sequence divergence was in the range of 0-1.51%, suggesting that those samples were closely related to each other... - A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific allelesIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683 8503, Japan
Int J Legal Med 125:121-5. 2011..1217A in exon 11 (CFI*Ah). The heterozygosity values ranged from 0.89 in German to 0.93 in Thai populations. This STR would be a useful supplementary marker for forensic individualization... - A Japanese-specific allele in the GALNT11 geneIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan
Leg Med (Tokyo) 12:208-11. 2010..153 in Okinawa, 0.076 in the main island of Japan, and 0.017-0.004 in Korea. These five East Asian- and Japanese-specific SNPs would be useful markers for forensic individualization, in particular, as ancestry-informative markers... - Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansionHiroko Arai
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
J Hum Genet 55:4-7. 2010..De novo polyalanine expansion mutations are mainly derived from unequal sister chromatid exchange during spermatogenesis because of replication and/or repair systems that are specific for spermatogenesis... - HERC1 polymorphisms: population-specific variations in haplotype compositionIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan
Cell Biochem Funct 27:402-5. 2009..Information on haplotypes would be useful for testing the function of polymorphisms in the HERC1 gene. This is the first study to investigate the distribution of HERC1 polymorphisms in various populations... - Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 geneTakashi Kitano
Department of Experimental and Forensic Pathology, Yamagata University School of Medicine, 2 2 2 Iidanishi, Yamagata 990 9585, Japan
Leg Med (Tokyo) 10:113-4. 2008..The SNP will be useful as one of ancestry information markers, because it showed marked difference in frequencies between Asian and European populations... - Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populationsIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
Leg Med (Tokyo) 13:215-7. 2011..673). This study confirmed that these two East Asian-specific alleles are characteristic of northern and central-southern East Asian populations... - Molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms in intronsIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan
Hum Biol 76:479-88. 2004..A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese... - [Haplotype analysis of single nucleotide polymorphisms of mitochondrial DNA]Gotaro Watanabe
Forensic Science Laboratory, Yamagata Prefectural Police Headquarters, Yamagata, Japan
Nihon Hoigaku Zasshi 58:141-8. 2004..These results show the usefulness of mtDNA haplotype analysis by the presented method for personal identification... - Two universal primer sets for species identification among vertebratesTakashi Kitano
Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan
Int J Legal Med 121:423-7. 2007..A case example of the identification of a piece of buried bone of unknown species is presented, and the species was identified as a pig by this method... - Cardiac ion channel gene mutations in sudden infant death syndromeTesshu Otagiri
Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
Pediatr Res 64:482-7. 2008..Our data suggests that nearly 10% of SIDS victims in Japan have mutations of the cardiac ion channel genes similar to in other countries... - Tempo and mode of evolution of the Rh blood group genes before and after gene duplicationTakashi Kitano
Department of Experimental and Forensic Pathology, Yamagata University School of Medicine, 2 2 2 Iidanishi, Yamagata, 990 9585, Japan
Immunogenetics 59:427-31. 2007..Although the evolutionary rate of exon 7 was accelerated after the gene duplication, our results suggest that exon 7 had the potential for change even before the gene duplication... - Origin and evolution of gene for prolactin-induced proteinTakashi Kitano
Department of Experimental and Forensic Pathology, Yamagata University School of Medicine, 2 2 2 Iidanishi, Yamagata 990 9585, Japan
Gene 383:64-70. 2006..The results indicate that the PIP gene arose by partial gene duplication from a member of the alpha-2-macroglobulin gene family after the divergence between amphibians and other tetrapods... - The structure and diversity of alpha1-acid glycoprotein/orosomucoid gene in AfricansIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683 8503, Japan
Biochem Genet 44:145-60. 2006..Several single-nucleotide polymorphisms were observed in the ORM2 gene. The rearrangement of the ORM gene is likely to occur often in Africans... - Allele frequency distribution of short tandem repeat D13S1493 in two populationsIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan
J Forensic Sci 51:445. 2006 - OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populationsIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
J Hum Genet 52:690-3. 2007..24) in Mongolia and showed a north-south downward geographical gradient. These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations... - De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesisHiroko Arai
Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
J Hum Genet 52:921-5. 2007.... - Haplotype analysis of seven Y-STRs (eleven loci) in two Japanese populationsIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, 683 8503 Yonago, Japan
Leg Med (Tokyo) 10:316-8. 2008..259 at DYS450 in southern Japan. A total of 272 different haplotypes were observed, of which 240 were found in single individuals. The overall haplotype diversity and discrimination capacity was 0.9982 and 0.8395, respectively... - Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humansMotoki Osawa
Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata 990 9585, Japan
Genomics 81:78-84. 2003..Repetitive polymorphism was unlikely in hominoids, and the array originated with the dodecamer itself in the course of primate evolution. The variability conceivably developed after the separation to humans... - Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathyKazuki Kijima
Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan
J Hum Genet 50:473-6. 2005..Mutation in HSP27 may impair the formation of the stable neurofilament network that is indispensable for the maintenance of peripheral nerves... - Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: the common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in JapaneseMasayo Kanai
Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
Pediatr Int 47:137-41. 2005..The gene frequency of the -3263T > G mutation was determined and the relation with neonatal hyperbilirubinemia in Japanese was studied... - Association of alpha2-HS glycoprotein (AHSG, fetuin-A) polymorphism with AHSG and phosphate serum levelsMotoki Osawa
Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, 2 2 2 Iida nishi, Yamagata, 990 9585, Japan
Hum Genet 116:146-51. 2005..The AHSG polymorphism is attributable to the hereditary variation of AHSG and phosphate serum levels, which may affect skeletal development and chronic disorders such as vascular calcification... - Molecular aspects of biochemical markersIsao Yuasa
Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683 8503, Japan
Leg Med (Tokyo) 7:251-4. 2005..Deficient and null alleles arise from point mutation and deletion. The value of genomic information on allelic diversity is also discussed... - Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndromeKazuki Kijima
Departments of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
Tohoku J Exp Med 203:65-8. 2004..We therefore analyzed the PHOX2B gene in 23 cases of SIDS and did not find any mutations, except for three polymorphic nucleotidic substitutions. The mutation of PHOX2B is thus not likely associated with SIDS... - Molecular analysis of the human esterase D gene ESD(*)Q0(yonago) responsible for incompatibility in a Japanese paternity caseIsao Yuasa
Department of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683 8503, Japan
Forensic Sci Int 126:248-51. 2002..It was characterized by having TGA for the stop codon instead of TCA for serine at codon 63. Thus, the sharing of a rare null gene, ESD(*)Q0(yonago), increased the probability of paternity... - Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2AKazuki Kijima
Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
Hum Genet 116:23-7. 2005..Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon... 
Mitochondrial genome variation in eastern Asia and the peopling of JapanMasashi Tanaka
Department of Gene Therapy, Gifu International Institute of Biotechnology, Kakamigahara, Gifu 504-0838, Japan
Genome Res 14:1832-50. 2004..All the theories that have been proposed up to now to explain the peopling of Japan seem insufficient to accommodate fully this complex picture...- Polymorphism, heteroplasmy, mitochondrial fusion and diabetesAya Sato
High Technology Research Center, Kagawa Nutrition University, Chiyoda Sakado, Saitama 350-0288, Japan
Biosci Rep 23:313-37. 2003..Under the influence of polymorphisms of mtDNA and nDNA, the vicious circle of reactive oxygen species and mutations in cell can be alleviated by mitochondrial fusion... - MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for CaucasoidsIsao Yuasa
Division of Legal Medicine Faculty of Medicine, Tottori University, 683 8503 Yonago, Japan
Int J Legal Med 118:364-6. 2004..This extreme difference in allele frequency suggests that the L374F mutation is valuable as a population and ancestry informative marker for Caucasoids... - Utility of haplogroup determination for forensic mtDNA analysis in the Japanese populationMasaru Asari
Department of Legal Medicine, Asahikawa Medical College, 2 1 Midorigaokahigashi, Asahikawa 078 8510, Japan
Leg Med (Tokyo) 9:237-40. 2007..Our mtDNA profiling method can provide reliable data in a time and cost-saving way due to the rapid and economical nature of APLP analysis... - Novel paternity testing by distinguishing parental alleles at a VNTR locus in the differentially methylated region upstream of the human H19 geneEmiko Naito
Division of Legal Medicine, Niigata University Graduate School of Medical and Dental Science, 1-757 Asahimachidori, Niigata 951-8510, Japan
J Forensic Sci 48:1275-9. 2003..671 and 0.705, respectively. Feasibility of this typing is demonstrated for six families, and the usefulness is shown by application to paternity testing... - Single nucleotide polymorphisms of thrifty genes for energy metabolism: evolutionary origins and prospects for intervention to prevent obesity-related diseasesYasuo Kagawa
Department of Medical Chemistry, Kagawa Nutrition University, 3 9 21 Chiyoda Sakado, Saitama 350 0288, Japan
Biochem Biophys Res Commun 295:207-22. 2002..Interventions to counteract the adverse effects of "thrifty" SNPs have been partially effective...